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NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Nature|July 26, 2019
A mutation-independent approach for muscular dystrophy via upregulation of a modifier geneDwi U Kemaladewi, Prabhpreet S Bassi, Steven Erwood, et al.
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)Erin Zampaglione, Matthew Maher, Emily M Place, et al.
Nature Medicine|July 18, 2017
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanismDwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, et al.
Spine Deformity|December 9, 2016
Results of the Scoliosis Research Society Morbidity and Mortality Database 2009-2012: A Report From the Morbidity and Mortality CommitteeDouglas C Burton, Brandon B Carlson, Howard M Place, et al.
NPJ Genomic Medicine|November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Brain : a Journal of Neurology|March 24, 2020
Cortical interneuron-mediated inhibition delays the onset of amyotrophic lateral sclerosisC Sahara Khademullah, Afif J Aqrabawi, Kara M Place, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 21, 2014
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencingMark B Consugar, Daniel Navarro-Gomez, Emily M Place, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosaLorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
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